(Q33803074)

24966895

29 July 2017

title

Clinical and genetic characteristics for the Urofacial Syndrome (UFS). (English)

1 reference

29 July 2017

1 reference

12

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2 June 2020

author name string

Yaqin Tu

1

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2 June 2020

Ping Yang

2

1 reference

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2 June 2020

Jia Yang

3

1 reference

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2 June 2020

Yuchen Xu

4

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2 June 2020

Fei Xiong

5

1 reference

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2 June 2020

Qilin Yu

6

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2 June 2020

Weikuan Gu

7

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2 June 2020

Dinel Pond

8

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2 June 2020

Nancy Mendelsohn

9

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2 June 2020

Guus A M A Lachmeijer

10

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2 June 2020

Shu Zhang

11

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2 June 2020

publication date

15 April 2014

1 reference

24966895

International Journal of Clinical and Experimental Pathology

29 July 2017

published in

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2 June 2020

volume

7

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2 June 2020

issue

5

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2 June 2020

page(s)

1842-1848

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Are both the sensory and the affective dimensions of pain encoded in the face?

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Blink restoration in adult facial paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Mutations in HPSE2 cause urofacial syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Neuroanatomy of pathological laughing and crying: a report of the American Neuropsychiatric Association Committee on Research

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Overactive bladder in children. Part 1: Pathophysiology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

CHARGE syndrome: an update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Diagnosis and management of dysfunctional voiding

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

28 July 2018

Townes-Brocks syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Nonneurogenic neurogenic bladder (the Hinman syndrome)--15 years later

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome"

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

LRIG2 mutations cause urofacial syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

An infantile case of Hinman syndrome with severe acute renal failure

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Neurogenic bladder: etiology and assessment

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Standardization and definitions in lower urinary tract dysfunction in children. International Children's Continence Society.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Physicians' views on pediatric preventive dental care.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4069969

Three new European cases of urofacial (Ochoa) syndrome

30 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

[Koff's urethral mobilization: report of 26 hypospadias presenting a distal division of the corpus spongiosum]

1 reference

12 December 2020

High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region

1 reference

12 December 2020

Face of the child as an index of disease

1 reference

12 December 2020

Urofacial (ochoa) syndrome

1 reference

12 December 2020

Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure

1 reference

12 December 2020

The urofacial (Ochoa) syndrome--first case in the central European population

1 reference

12 December 2020

First HPSE2 missense mutation in urofacial syndrome

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24966895%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

24966895

1 reference